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Article

An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.

PloS one - 1 Jan 2014

Manso Rebeca, Rodríguez-Pinilla Socorro María, Lombardia Luis, Ruiz de Garibay Gorka, Del Mar López Maria, Requena Luis, Sánchez Lydia, Sánchez-Beato Margarita, Piris Miguel Ángel

Abstract excerpt

NK/T-cell lymphoma (NKTCL) is the most frequent EBV-related NK/T-cell disease. Its clinical manifestations overlap with those of familial haemophagocytic lymphohistiocytosis (FHLH). Since PERFORIN (PRF1) mutations are present in FHLH, we analysed its role in a series of 12 nasal and 12 extranasal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24632576
DOI: 10.1371/journal.pone.0091521
PMCID: PMC3954696

Genes

PRF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24632576-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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